715528001: Cochleosaccular degeneration and cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Vestibular system finding\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cochleosaccular degeneration and cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of head\Disorder of ear\Degenerative disorder of ear\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302927017 Cochleosaccular degeneration and cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3302928010 Cochleosaccular degeneration and cataract syndrome en Synonym Active Case insensitive SNOMED CT core

3302929019 Cochleosaccular degeneration with progressive cataract en Synonym Active Case insensitive SNOMED CT core

3302930012 Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cochleosaccular degeneration and cataract syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Cochleosaccular degeneration and cataract syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Cochleosaccular degeneration and cataract syndrome	Finding site	Cochlear structure	true	Inferred relationship	Some	2
Cochleosaccular degeneration and cataract syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Cochleosaccular degeneration and cataract syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome	Is a	Cataract	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome	Is a	Inherited cochlear degeneration	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Cochleosaccular degeneration and cataract syndrome	Finding site	Cochlear structure	false	Inferred relationship	Some	3
Cochleosaccular degeneration and cataract syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	4
Cochleosaccular degeneration and cataract syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302927017	Cochleosaccular degeneration and cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302928010	Cochleosaccular degeneration and cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302929019	Cochleosaccular degeneration with progressive cataract	en	Synonym	Active	Case insensitive	SNOMED CT core
3302930012	Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core